view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CARS2_chr13_110636417_110711116 | 110677265 | AGACCCAG others(69): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG02486.hp1 HG02572.hp1 others(7): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0001a0001c0009t0002 | a0001c0003t0001g0018 a0001c0003t0001g0234 a0001c0003t0001g0247 others(6): Show |
10 | 372 | 0.0269 | -76 | c.656 others(91): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar | |||||||
CARS2_chr13_110636417_110711116 | 110677308 | ACATGGAA others(69): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00738.hp1 others(69): Show |
a0001a0003a0007others(2): Show | a0001c0002a0001c0007a0001c0019others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0007t0001others(5): Show | a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0015 others(61): Show |
72 | 372 | 0.1936 | -76 | c.656 others(91): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar | |||||||
CASP1_chr11_105020508_105040144 | 105024753 | GTGTTTAA others(69): Show |
G | downstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0060 | 1 | 398 | 0.0025 | -76 | c.*14 others(87): Show |
CASP1 | ENSG00000137752.25 | transcript | ENST00000533400.6 | protein_coding | 754 | chr11 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10744655 | TGGGCACC others(69): Show |
T | intron_variant | MODIFIER | HG03209.hp2 NA20905.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0020a0001c0004t0022 | a0001c0001t0020g0019 a0001c0004t0022g0056 |
2 | 236 | 0.0085 | -76 | c.-77 others(95): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88955765 | CCACCCAA others(69): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02970.hp1 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0020t0029 | a0001c0001t0001g0256 a0001c0020t0029g0111 |
2 | 284 | 0.0070 | -76 | c.151 others(95): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CCDC166_chr8_143701694_143713109 | 143711562 | GTCCACAG others(69): Show |
G | upstream_gene_variant | MODIFIER | HG00738.hp2 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 423 | 0.0047 | -76 | c.-35 others(87): Show |
CCDC166 | ENSG00000255181.3 | transcript | ENST00000542437.1 | protein_coding | 3454 | chr8 | TogoVar | |||||||
CCDC166_chr8_143701694_143713109 | 143711563 | TCCACAGC others(69): Show |
T | upstream_gene_variant | MODIFIER | HG02129.hp2 NA18944.hp2 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 423 | 0.0071 | -76 | c.-35 others(87): Show |
CCDC166 | ENSG00000255181.3 | transcript | ENST00000542437.1 | protein_coding | 3455 | chr8 | TogoVar | |||||||
CCDC166_chr8_143701694_143713109 | 143711630 | GTCCTCCC others(69): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02257.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0002c0002t0001g0002 |
5 | 423 | 0.0118 | -76 | c.-35 others(87): Show |
CCDC166 | ENSG00000255181.3 | transcript | ENST00000542437.1 | protein_coding | 3522 | chr8 | TogoVar | |||||||
CCDC178_chr18_32932406_33445721 | 33288355 | CTCCTCTC others(69): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0048 | 1 | 58 | 0.0172 | -76 | c.117 others(95): Show |
CCDC178 | ENSG00000166960.17 | transcript | ENST00000383096.8 | protein_coding | 12/22 | chr18 | TogoVar | |||||||
CCDC59_chr12_82347303_82363387 | 82357276 | TGAGGAAT others(69): Show |
T | splice_region_variant others(1): Show |
LOW | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 346 | 0.0029 | -76 | c.155 others(88): Show |
CCDC59 | ENSG00000133773.12 | transcript | ENST00000256151.8 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
CCDC6_chr10_59783747_59911556 | 59882525 | GAGAAGGA others(69): Show |
G | intron_variant | MODIFIER | NA18994.hp2 NA18995.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0051 a0002c0004t0001g0052 |
2 | 288 | 0.0069 | -76 | c.303 others(95): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 420198 | ATACACAC others(69): Show |
A | intron_variant | MODIFIER | HG02738.hp2 HG03017.hp1 HG03492.hp1 others(3): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0001a0001c0001t0002a0008c0011t0002 | a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0208 others(3): Show |
6 | 432 | 0.0139 | -76 | c.413 others(93): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 420270 | TAAATACA others(69): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0007 | a0007c0007 | a0007c0007t0005 | a0007c0007t0005g0328 | 1 | 432 | 0.0023 | -76 | c.413 others(93): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 421232 | ATACACAC others(69): Show |
A | intron_variant | MODIFIER | HG03017.hp1 NA19065.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0208 a0002c0002t0002g0083 |
2 | 432 | 0.0046 | -76 | c.413 others(93): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 421824 | ATACACAC others(69): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02895.hp2 others(3): Show |
a0005a0007 | a0005c0005a0007c0007 | a0005c0005t0005a0007c0007t0005 | a0005c0005t0005g0334 a0005c0005t0005g0412 a0005c0005t0005g0420 others(3): Show |
6 | 432 | 0.0139 | -76 | c.413 others(93): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
CCL17_chr16_57399767_57421063 | 57403416 | TTATATTA others(69): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0097 |
2 | 388 | 0.0052 | -76 | c.-14 others(87): Show |
CCL17 | ENSG00000102970.11 | transcript | ENST00000219244.9 | protein_coding | 1350 | chr16 | TogoVar | |||||||
CCNB1IP1_chr14_20306370_20338279 | 20309952 | GGCCGCCC others(69): Show |
G | downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 418 | 0.0024 | -76 | c.*15 others(87): Show |
CCNB1IP1 | ENSG00000100814.19 | transcript | ENST00000358932.9 | protein_coding | 1417 | chr14 | TogoVar | |||||||
CD38_chr4_15773328_15858232 | 15791224 | GCGCCTCT others(69): Show |
G | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 344 | 0.0029 | -76 | c.233 others(95): Show |
CD38 | ENSG00000004468.13 | transcript | ENST00000226279.8 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
CD38_chr4_15773328_15858232 | 15791366 | CCGCCCGG others(69): Show |
C | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 344 | 0.0029 | -76 | c.233 others(95): Show |
CD38 | ENSG00000004468.13 | transcript | ENST00000226279.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CDC34_chr19_526760_547087 | 540275 | CGGTTTAG others(69): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 328 | 0.0031 | -76 | c.498 others(91): Show |
CDC34 | ENSG00000099804.9 | transcript | ENST00000215574.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CDH13_chr16_82621969_83805640 | 83724181 | AAATGCAT others(69): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01167.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0024 a0001c0001t0001g0087 a0001c0001t0003g0085 others(11): Show |
14 | 110 | 0.1273 | -76 | c.153 others(97): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH18_chr5_19466296_19993200 | 19525335 | CTTTACAT others(69): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0043 | 1 | 138 | 0.0073 | -76 | c.139 others(95): Show |
CDH18 | ENSG00000145526.12 | transcript | ENST00000382275.6 | protein_coding | 9/12 | chr5 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61744402 | AAGAGGTG others(69): Show |
A | intron_variant | MODIFIER | HG01123.hp1 NA18941.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0026 | a0001c0001t0002g0088 a0002c0004t0026g0050 |
2 | 106 | 0.0189 | -76 | c.396 others(91): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDK10_chr16_89681689_89701354 | 89685411 | CCGCAGTG others(69): Show |
C | upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 422 | 0.0024 | -76 | c.-12 others(87): Show |
CDK10 | ENSG00000185324.22 | transcript | ENST00000353379.12 | protein_coding | 1277 | chr16 | TogoVar | |||||||
CELF1_chr11_47460937_47558132 | 47541717 | AGAAAGAA others(69): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01361.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0001g0163 a0001c0001t0001g0175 a0001c0001t0001g0184 others(17): Show |
20 | 340 | 0.0588 | -76 | c.-15 others(97): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 641899 | CAGAAGCC others(69): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
a0003 | a0003c0003a0003c0005 | a0003c0003t0002a0003c0005t0002 | a0003c0003t0002g0020 a0003c0003t0002g0022 a0003c0003t0002g0023 others(3): Show |
6 | 91 | 0.0659 | -76 | c.153 others(95): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 642178 | ATTTAAAC others(69): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
a0003 | a0003c0003a0003c0005 | a0003c0003t0002a0003c0005t0002 | a0003c0003t0002g0020 a0003c0003t0002g0022 a0003c0003t0002g0023 others(3): Show |
6 | 91 | 0.0659 | -76 | c.153 others(95): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CERCAM_chr9_128415857_128442347 | 128437866 | TACACGTA others(69): Show |
T | downstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0195 | 1 | 400 | 0.0025 | -76 | c.*10 others(87): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 520 | chr9 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168749621 | AGAATATG others(69): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp2 others(128): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0027 others(128): Show |
131 | 176 | 0.7443 | -76 | c.846 others(95): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81129869 | TTTTTTGC others(69): Show |
T | upstream_gene_variant | MODIFIER | HG02129.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 a0001c0001t0001g0301 |
2 | 448 | 0.0045 | -76 | c.-44 others(87): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 4400 | chr15 | TogoVar | |||||||
CFAP20_chr16_58108592_58134381 | 58119773 | CTGTTCCC others(69): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0017 others(13): Show |
45 | 400 | 0.1125 | -76 | c.85- others(91): Show |
CFAP20 | ENSG00000070761.8 | transcript | ENST00000262498.8 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132826517 | ACCGGAGC others(69): Show |
A | intron_variant | MODIFIER | HG02300.hp1 | a0006 | a0006c0004 | a0006c0004t0002 | a0006c0004t0002g0108 | 1 | 246 | 0.0041 | -76 | c.711 others(95): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132895916 | TGAGAAGG others(69): Show |
T | intron_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0195 | 1 | 246 | 0.0041 | -76 | c.321 others(95): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 24/57 | chr10 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96664695 | ATCTATAT others(69): Show |
A | intron_variant | MODIFIER | NA18964.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0236 | 1 | 268 | 0.0037 | -76 | c.556 others(93): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96664697 | CTATATAT others(69): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02922.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0033 others(1): Show |
4 | 268 | 0.0149 | -76 | c.556 others(93): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104357856 | TACACATA others(69): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG06807.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0243 a0002c0002t0002g0232 |
2 | 308 | 0.0065 | -76 | c.10- others(89): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104357894 | TATATGTA others(69): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02145.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0061 a0001c0001t0001g0096 a0001c0001t0001g0097 others(10): Show |
13 | 308 | 0.0422 | -76 | c.10- others(89): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104357922 | TACACATA others(69): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0092 | 1 | 308 | 0.0033 | -76 | c.10- others(89): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132421610 | TGAGAATC others(69): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(312): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 others(312): Show |
315 | 322 | 0.9783 | -76 | c.195 others(95): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CHID1_chr11_862859_915810 | 897036 | AACGAGCC others(69): Show |
A | intron_variant | MODIFIER | NA18984.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0306 | 1 | 386 | 0.0026 | -76 | c.608 others(93): Show |
CHID1 | ENSG00000177830.18 | transcript | ENST00000323578.13 | protein_coding | 7/12 | chr11 | TogoVar | |||||||
CHRNA7_chr15_32025515_32178018 | 32065906 | CAGCCCAC others(69): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp2 others(41): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0027a0001c0001t0040others(14): Show | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0062 others(41): Show |
44 | 307 | 0.1433 | -76 | c.195 others(95): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33757387 | GAAGAAAG others(69): Show |
G | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0250 | 1 | 254 | 0.0039 | -76 | c.131 others(95): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33757458 | GAAAGAAA others(69): Show |
G | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 254 | 0.0039 | -76 | c.131 others(95): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33757462 | GAAAGAAA others(69): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 a0001c0001t0001g0221 |
2 | 254 | 0.0079 | -76 | c.131 others(95): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLEC2L_chr7_139518685_139549985 | 139520461 | GGGAAGAG others(69): Show |
G | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01257.hp2 HG01433.hp1 others(37): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0034 a0001c0001t0002g0102 a0001c0001t0002g0142 others(30): Show |
40 | 308 | 0.1299 | -76 | c.-34 others(87): Show |
CLEC2L | ENSG00000236279.7 | transcript | ENST00000422142.7 | protein_coding | 3223 | chr7 | TogoVar | |||||||
CLSTN2_chr3_139930185_140582397 | 140490012 | ATGTGTGT others(69): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01496.hp1 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0008others(4): Show | a0001c0001t0005a0001c0001t0042a0001c0006t0031others(12): Show | a0001c0001t0005g0026 a0001c0001t0005g0089 a0001c0001t0042g0011 others(15): Show |
18 | 110 | 0.1636 | -76 | c.134 others(97): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 633822 | TAATCGGA others(69): Show |
T | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0319 | 1 | 414 | 0.0024 | -76 | c.994 others(91): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 7/9 | chr18 | TogoVar | |||||||
CMPK2_chr2_6843316_6870907 | 6870592 | TGGGTAAG others(69): Show |
T | upstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0018 | 1 | 392 | 0.0026 | -76 | c.-49 others(87): Show |
CMPK2 | ENSG00000134326.12 | transcript | ENST00000256722.10 | protein_coding | 4686 | chr2 | TogoVar | |||||||
CNGA1_chr4_47930977_48021681 | 47976165 | ATATATAC others(69): Show |
A | intron_variant | MODIFIER | HG02132.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0236 a0001c0001t0003g0056 |
2 | 366 | 0.0055 | -76 | c.-15 others(93): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 3/10 | chr4 | TogoVar | |||||||
CNTN1_chr12_40687439_41077415 | 41056943 | ATAATATT others(69): Show |
A | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 230 | 0.0044 | -76 | c.298 others(97): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 23/23 | chr12 | TogoVar |